Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000302418 [[32297937, 32300444], [32304436, 32304587], [32306070, 32306287], [32306979, 32307084], [32307243, 32307315], [32307429, 32307490], [32308785, 32308887], [32309949, 32310059], [32310153, 32310215], [32311067, 32311185], [32311775, 32311964], [32317355, 32317499], [32320000, 32320207], [32321633, 32321702], [32322772, 32322966], [32323617, 32323766], [32324449, 32324595], [32324817, 32324922], [32326181, 32326306], [32326447, 32326535], [32327090, 32327146], [32327705, 32327754], [32328254, 32328359], [32329311, 32329385], [32337391, 32337479], [32344775, 32345359]] [[32304456, 32304587], [32306070, 32306287], [32306979, 32307084], [32307243, 32307315], [32307429, 32307490], [32308785, 32308887], [32309949, 32310059], [32310153, 32310215], [32311067, 32311185], [32311775, 32311964], [32317355, 32317499], [32320000, 32320207], [32321633, 32321702], [32322772, 32322966], [32323617, 32323766], [32324449, 32324595], [32324817, 32324922], [32326181, 32326306], [32326447, 32326535], [32327090, 32327146], [32327705, 32327754], [32328254, 32328359], [32329311, 32329385], [32337391, 32337479], [32344775, 32344901]]
ENST00000493889 [[32306134, 32306287], [32306979, 32307084], [32307429, 32307490], [32308785, 32308887], [32309949, 32310022]] None
NM_004521 [[32297937, 32300444], [32304436, 32304587], [32306070, 32306287], [32306979, 32307084], [32307243, 32307315], [32307429, 32307490], [32308785, 32308887], [32309949, 32310059], [32310153, 32310215], [32311067, 32311185], [32311775, 32311964], [32317355, 32317499], [32320000, 32320207], [32321633, 32321702], [32322772, 32322966], [32323617, 32323766], [32324449, 32324595], [32324817, 32324922], [32326181, 32326306], [32326447, 32326535], [32327090, 32327146], [32327705, 32327754], [32328254, 32328359], [32329311, 32329385], [32337391, 32337479], [32344775, 32345371]] [[32304456, 32304587], [32306070, 32306287], [32306979, 32307084], [32307243, 32307315], [32307429, 32307490], [32308785, 32308887], [32309949, 32310059], [32310153, 32310215], [32311067, 32311185], [32311775, 32311964], [32317355, 32317499], [32320000, 32320207], [32321633, 32321702], [32322772, 32322966], [32323617, 32323766], [32324449, 32324595], [32324817, 32324922], [32326181, 32326306], [32326447, 32326535], [32327090, 32327146], [32327705, 32327754], [32328254, 32328359], [32329311, 32329385], [32337391, 32337479], [32344775, 32344901]]
Promoter
Chrom Start End Description
chr10 32345305 32345376 CAGE_peak_1_at_KIF5B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I031925 31925601 31931352 2.68 [{'connected_gene': 'ARHGAP12', 'score': 555.64}, {'connected_gene': 'KIF5B', 'score': 20.54}, {'connected_gene': 'ENSG00000226842', 'score': 12.8}, {'connected_gene': 'EPC1', 'score': 12.7}, {'connected_gene': 'ZEB1-AS1', 'score': 10.52}, {'connected_gene': 'HMGB1P7', 'score': 0.37}]
chr10 GH10I032144 32144723 32145413 0.73 [{'connected_gene': 'EPC1', 'score': 53.53}, {'connected_gene': 'ENSG00000226842', 'score': 34.06}, {'connected_gene': 'AK3P5', 'score': 25.22}, {'connected_gene': 'ZEB1-AS1', 'score': 18.48}, {'connected_gene': 'KIF5B', 'score': 17.03}, {'connected_gene': 'RNU7-22P', 'score': 11.69}, {'connected_gene': 'ENSG00000206660', 'score': 10.82}, {'connected_gene': 'CCDC7', 'score': 9.88}, {'connected_gene': 'ENSG00000234811', 'score': 0.29}]
chr10 GH10I032104 32104155 32105092 0.72 [{'connected_gene': 'RPS4XP11', 'score': 550.77}, {'connected_gene': 'KIF5B', 'score': 10.09}, {'connected_gene': 'ENSG00000235113', 'score': 0.44}]
chr10 GH10I032189 32189254 32190121 0.69 [{'connected_gene': 'PPIAP31', 'score': 550.77}, {'connected_gene': 'KIF5B', 'score': 4.84}, {'connected_gene': 'GC10M032232', 'score': 0.26}]
chr10 GH10I031934 31934939 31937903 0.97 [{'connected_gene': 'KIF5B', 'score': 17.0}, {'connected_gene': 'ARHGAP12', 'score': 5.3}, {'connected_gene': 'RPS4XP11', 'score': 4.57}, {'connected_gene': 'GC10P031934', 'score': 0.77}, {'connected_gene': 'GC10P031969', 'score': 0.29}]
chr10 GH10I031803 31803607 31809422 0.89 [{'connected_gene': 'KIF5B', 'score': 15.39}, {'connected_gene': 'ARHGAP12', 'score': 4.99}, {'connected_gene': 'SPTLC1P1', 'score': 4.58}, {'connected_gene': 'CCDC7', 'score': 4.16}, {'connected_gene': 'ENSG00000222412', 'score': 0.23}, {'connected_gene': 'HMGB1P7', 'score': 0.14}]
chr10 GH10I031818 31818753 31821358 0.72 [{'connected_gene': 'KIF5B', 'score': 7.11}, {'connected_gene': 'ARHGAP12', 'score': 5.01}, {'connected_gene': 'ENSG00000222412', 'score': 0.21}, {'connected_gene': 'HMGB1P7', 'score': 0.16}]
chr10 GH10I031816 31816079 31817247 0.31 [{'connected_gene': 'KIF5B', 'score': 7.11}, {'connected_gene': 'ARHGAP12', 'score': 5.0}, {'connected_gene': 'ENSG00000222412', 'score': 0.21}, {'connected_gene': 'HMGB1P7', 'score': 0.15}]
chr10 GH10I031768 31768019 31772134 1.02 [{'connected_gene': 'KIF5B', 'score': 5.85}, {'connected_gene': 'ARHGAP12', 'score': 3.88}, {'connected_gene': 'ENSG00000222412', 'score': 0.39}, {'connected_gene': 'HMGB1P7', 'score': 0.11}]
chr10 GH10I031822 31822029 31823384 0.43 [{'connected_gene': 'KIF5B', 'score': 9.45}, {'connected_gene': 'ARHGAP12', 'score': 5.01}, {'connected_gene': 'ENSG00000222412', 'score': 0.2}, {'connected_gene': 'HMGB1P7', 'score': 0.16}]
chr10 GH10I031881 31881077 31882673 0.59 [{'connected_gene': 'KIF5B', 'score': 14.8}, {'connected_gene': 'ARHGAP12', 'score': 5.12}, {'connected_gene': 'HMGB1P7', 'score': 0.29}, {'connected_gene': 'ENSG00000222412', 'score': 0.13}]
chr10 GH10I031862 31862201 31862801 1.04 [{'connected_gene': 'KIF5B', 'score': 9.47}, {'connected_gene': 'ARHGAP12', 'score': 5.08}, {'connected_gene': 'HMGB1P7', 'score': 0.23}, {'connected_gene': 'ENSG00000222412', 'score': 0.14}]
chr10 GH10I031863 31863908 31869137 0.95 [{'connected_gene': 'KIF5B', 'score': 14.76}, {'connected_gene': 'ARHGAP12', 'score': 5.09}, {'connected_gene': 'HMGB1P7', 'score': 0.25}, {'connected_gene': 'ENSG00000222412', 'score': 0.14}]
chr10 GH10I032162 32162747 32164272 0.58 [{'connected_gene': 'KIF5B', 'score': 16.83}, {'connected_gene': 'ENSG00000206660', 'score': 11.25}, {'connected_gene': 'ARHGAP12', 'score': 4.38}, {'connected_gene': 'RNU7-22P', 'score': 0.39}, {'connected_gene': 'ENSG00000234811', 'score': 0.23}]
chr10 GH10I031938 31938386 31945662 1.39 [{'connected_gene': 'KIF5B', 'score': 28.22}, {'connected_gene': 'ENSG00000206660', 'score': 11.45}, {'connected_gene': 'ARHGAP12', 'score': 5.26}, {'connected_gene': 'GC10P031934', 'score': 0.44}, {'connected_gene': 'GC10P031969', 'score': 0.31}]
chr10 GH10I031961 31961098 31965114 1.1 [{'connected_gene': 'KIF5B', 'score': 19.71}, {'connected_gene': 'ARHGAP12', 'score': 5.16}, {'connected_gene': 'GC10P031969', 'score': 0.44}, {'connected_gene': 'GC10P031934', 'score': 0.31}]
chr10 GH10I032367 32367601 32368399 1.14 [{'connected_gene': 'KIF5B', 'score': 9.69}, {'connected_gene': 'ENSG00000206660', 'score': 9.69}, {'connected_gene': 'EPC1', 'score': 0.39}, {'connected_gene': 'GC10P032352', 'score': 0.37}, {'connected_gene': 'LOC102031319', 'score': 0.34}]
chr10 GH10I032366 32366201 32366400 0.2 [{'connected_gene': 'KIF5B', 'score': 9.69}, {'connected_gene': 'ENSG00000206660', 'score': 9.69}, {'connected_gene': 'EPC1', 'score': 0.39}, {'connected_gene': 'GC10P032352', 'score': 0.39}, {'connected_gene': 'LOC102031319', 'score': 0.37}]
chr10 GH10I031748 31748819 31752296 1.27 [{'connected_gene': 'KIF5B', 'score': 7.15}, {'connected_gene': 'CCDC7', 'score': 4.41}, {'connected_gene': 'ENSG00000222412', 'score': 0.44}, {'connected_gene': 'LOC101929951', 'score': 0.26}]
chr10 GH10I032059 32059080 32060416 0.85 [{'connected_gene': 'KIF5B', 'score': 11.97}, {'connected_gene': 'ENSG00000206660', 'score': 0.77}, {'connected_gene': 'RPS4XP11', 'score': 0.26}]
chr10 GH10I032095 32095293 32095442 0.83 [{'connected_gene': 'KIF5B', 'score': 11.61}, {'connected_gene': 'ENSG00000206660', 'score': 11.61}, {'connected_gene': 'RPS4XP11', 'score': 0.44}]
chr10 GH10I032077 32077714 32078682 0.52 [{'connected_gene': 'KIF5B', 'score': 20.37}, {'connected_gene': 'ENSG00000206660', 'score': 13.11}, {'connected_gene': 'RPS4XP11', 'score': 0.31}]
chr10 GH10I032179 32179821 32181111 0.51 [{'connected_gene': 'KIF5B', 'score': 10.78}, {'connected_gene': 'ENSG00000206660', 'score': 10.78}, {'connected_gene': 'PPIAP31', 'score': 5.27}, {'connected_gene': 'GC10P032174', 'score': 0.44}]
chr10 GH10I032148 32148691 32152306 1.34 [{'connected_gene': 'KIF5B', 'score': 16.23}, {'connected_gene': 'ZEB1-AS1', 'score': 12.83}, {'connected_gene': 'RNU7-22P', 'score': 12.13}, {'connected_gene': 'ENSG00000206660', 'score': 10.81}, {'connected_gene': 'ENSG00000234811', 'score': 0.28}]
chr10 GH10I031789 31789653 31789782 0.31 [{'connected_gene': 'KIF5B', 'score': 6.46}, {'connected_gene': 'ENSG00000222412', 'score': 0.29}, {'connected_gene': 'HMGB1P7', 'score': 0.13}]
chr10 GH10I031764 31764980 31766179 0.51 [{'connected_gene': 'KIF5B', 'score': 5.27}, {'connected_gene': 'ENSG00000222412', 'score': 0.44}, {'connected_gene': 'HMGB1P7', 'score': 0.11}]
chr10 GH10I031977 31977201 31978543 0.98 [{'connected_gene': 'KIF5B', 'score': 16.79}, {'connected_gene': 'RPL34P19', 'score': 0.44}, {'connected_gene': 'GC10P031969', 'score': 0.44}]
chr10 GH10I032253 32253353 32253918 0.46 [{'connected_gene': 'KIF5B', 'score': 4.42}, {'connected_gene': 'ENSG00000227253', 'score': 0.39}, {'connected_gene': 'RPS24P13', 'score': 0.34}]
chr10 GH10I032138 32138334 32141713 1.41 [{'connected_gene': 'KIF5B', 'score': 17.55}, {'connected_gene': 'RNU7-22P', 'score': 11.98}, {'connected_gene': 'ENSG00000206660', 'score': 10.83}, {'connected_gene': 'ENSG00000234811', 'score': 0.31}]
chr10 GH10I032130 32130853 32132449 0.54 [{'connected_gene': 'KIF5B', 'score': 20.99}, {'connected_gene': 'ENSG00000206660', 'score': 11.01}, {'connected_gene': 'ENSG00000234811', 'score': 0.37}, {'connected_gene': 'RNU7-22P', 'score': 0.26}]
chr10 GH10I032132 32132453 32132622 0.38 [{'connected_gene': 'KIF5B', 'score': 11.0}, {'connected_gene': 'ENSG00000206660', 'score': 11.0}, {'connected_gene': 'ENSG00000234811', 'score': 0.34}, {'connected_gene': 'RNU7-22P', 'score': 0.26}]
chr10 GH10I032136 32136584 32137832 0.51 [{'connected_gene': 'KIF5B', 'score': 5.68}, {'connected_gene': 'ENSG00000234811', 'score': 0.31}, {'connected_gene': 'RNU7-22P', 'score': 0.28}]
chr10 GH10I032170 32170657 32171966 0.72 [{'connected_gene': 'KIF5B', 'score': 4.71}, {'connected_gene': 'RNU7-22P', 'score': 0.77}, {'connected_gene': 'ENSG00000234811', 'score': 0.22}]
chr10 GH10I032003 32003941 32005282 0.86 [{'connected_gene': 'KIF5B', 'score': 23.22}, {'connected_gene': 'ENSG00000206660', 'score': 12.08}, {'connected_gene': 'GC10P032002', 'score': 0.77}]
chr10 GH10I031948 31948910 31949651 0.31 [{'connected_gene': 'KIF5B', 'score': 5.25}, {'connected_gene': 'GC10P031934', 'score': 0.37}, {'connected_gene': 'GC10P031969', 'score': 0.34}]
chr10 GH10I032053 32053400 32057446 2.24 [{'connected_gene': 'KIF5B', 'score': 579.24}, {'connected_gene': 'ENSG00000206660', 'score': 550.77}, {'connected_gene': 'GC10P032057', 'score': 550.77}, {'connected_gene': 'GC10P032002', 'score': 0.23}]
chr10 GH10I032012 32012640 32012843 0.22 [{'connected_gene': 'KIF5B', 'score': 40.22}, {'connected_gene': 'ENSG00000206660', 'score': 12.26}, {'connected_gene': 'GC10P032002', 'score': 0.39}]
chr10 GH10I032049 32049773 32050756 0.72 [{'connected_gene': 'KIF5B', 'score': 22.28}, {'connected_gene': 'GC10P032002', 'score': 0.25}]
chr10 GH10I032046 32046915 32047289 0.44 [{'connected_gene': 'KIF5B', 'score': 11.58}, {'connected_gene': 'GC10P032002', 'score': 0.26}]
chr10 GH10I032042 32042388 32043606 0.4 [{'connected_gene': 'KIF5B', 'score': 10.23}, {'connected_gene': 'GC10P032002', 'score': 0.26}]
chr10 GH10I031912 31912312 31913600 0.9 [{'connected_gene': 'HMGB1P7', 'score': 550.77}, {'connected_gene': 'KIF5B', 'score': 10.28}, {'connected_gene': 'ENSG00000206660', 'score': 10.28}, {'connected_gene': 'ARHGAP12', 'score': 5.23}, {'connected_gene': 'ENSG00000222412', 'score': 0.1}]
chr10 GH10I032142 32142234 32143955 0.58 [{'connected_gene': 'RNU7-22P', 'score': 11.67}, {'connected_gene': 'KIF5B', 'score': 10.82}, {'connected_gene': 'ENSG00000206660', 'score': 10.82}, {'connected_gene': 'ENSG00000234811', 'score': 0.29}]
chr10 GH10I031752 31752814 31761954 1.74 [{'connected_gene': 'ENSG00000222412', 'score': 550.77}, {'connected_gene': 'EPC1', 'score': 15.57}, {'connected_gene': 'ENSG00000226842', 'score': 12.64}, {'connected_gene': 'KIF5B', 'score': 8.29}, {'connected_gene': 'ZEB1', 'score': 1.6}, {'connected_gene': 'HMGB1P7', 'score': 0.1}]
chr10 GH10I032000 32000410 32003271 0.46 [{'connected_gene': 'GC10P032002', 'score': 550.77}, {'connected_gene': 'KIF5B', 'score': 29.04}, {'connected_gene': 'ARHGAP12', 'score': 4.61}, {'connected_gene': 'LOC105376485', 'score': 0.44}]
chr10 GH10I031932 31932935 31933882 0.31 [{'connected_gene': 'GC10P031934', 'score': 550.77}, {'connected_gene': 'KIF5B', 'score': 4.64}, {'connected_gene': 'ARHGAP12', 'score': 0.77}]
chr10 GH10I032111 32111291 32112832 0.59 [{'connected_gene': 'ENSG00000234811', 'score': 550.77}, {'connected_gene': 'KIF5B', 'score': 25.95}, {'connected_gene': 'ENSG00000206660', 'score': 11.56}, {'connected_gene': 'ENSG00000235113', 'score': 0.77}, {'connected_gene': 'RNU7-22P', 'score': 0.21}]